UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Neurology, 2014-08, Vol.83 (7), p.612-619

2014

Volltextzugriff (PDF)

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Neurobiology of aging, 2021-10, Vol.106, p.343.e1-343.e8

2021

Volltextzugriff (PDF)

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Expert review of molecular diagnostics, 2023-07, Vol.23 (9), p.797-814

2023

Volltextzugriff (PDF)

Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 1221.e1–1221.e6]

Neurobiology of aging, 2015-04, Vol.36 (4), p.1768-1768

2015

Volltextzugriff (PDF)

Author Correction: Scalable and robust SARS-CoV-2 testing in an academic center

Nature biotechnology, 2020-08, Vol.38 (8), p.1000-1000

2020

Volltextzugriff (PDF)

Clinicopathological study of frontotemporal dementia with homozygous mutation of the C9ORF72 gene

Alzheimer's & dementia, 2013-07, Vol.9 (4), p.P437-P437

2013

Volltextzugriff (PDF)

P2–219: Clinicopathological study of frontotemporal dementia with homozygous mutation of the C9ORF72 gene

Alzheimer's & dementia, 2013-07, Vol.9 (4S_Part_11), p.P437-P437

2013

Volltextzugriff (PDF)

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

Journal of the peripheral nervous system, 2012-06, Vol.17 (2), p.201-205

2012

Volltextzugriff (PDF)

Functional genomics in the stroke-prone spontaneously hypertensive rat: genome wide and candidate gene analysis

Polke, James M

2008

Volltextzugriff (PDF)

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia

Journal of the peripheral nervous system : JPNS, 2020, Vol.25 (3), p.303-307

2020

Volltextzugriff (PDF)

Severe cognitive impairment in a patient with CMT2A

Journal of the peripheral nervous system : JPNS, 2018, Vol.23 (2), p.147-148

2018

Volltextzugriff (PDF)

MSA-C or SCA 17? A clinicopathological case update

Movement disorders : official journal of the Movement Disorder Society, 2016, Vol.31 (10), p.1582-1584

2016

Volltextzugriff (PDF)

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain (London, England : 1878), 2020-02, Vol.143 (2), p.480-490

2020

Volltextzugriff (PDF)

Plasma phospho‐tau in familial Alzheimer’s disease

Alzheimer's & dementia, 2020-12, Vol.16, p.n/a

2020

Volltextzugriff (PDF)

Plasma phospho‐tau in familial Alzheimer’s disease: Biomarkers (non‐neuroimaging) / plasma/serum/urine biomarkers

Alzheimer's & dementia, 2020-12, Vol.16 (S4)

2020

Volltextzugriff (PDF)

A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

Journal of the peripheral nervous system, 2011-03, Vol.16 (1), p.65-70

2011

Volltextzugriff (PDF)

A novel mutation in the nerve-specific 5-2UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

Journal of the peripheral nervous system, 2011-03, Vol.16 (1), p.65-70

2011

Volltextzugriff (PDF)

Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Journal of the peripheral nervous system : JPNS, 2024, Vol.29 (1), p.111-115

2024

Volltextzugriff (PDF)

1 – 21 von 21

Suche als RSS-Feed

Aktive Filter

ThemaLife Sciences & Biomedicine

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(16)
Mit Volltextzugriff
(16)

Publikationsform

Sprache

Englisch
(21)

Erscheinungsjahr

n.n

Thema

Humans
(5)
Female
(4)
Male
(4)
Middle Aged
(4)
Aged
(3)
Neurology
(3)
Adult
(2)
Charcot-Marie-Tooth Disease
(2)
Charcot-Marie-Tooth Disease - Genetics
(2)
Connexin 32
(2)
Genetics
(2)
Mutation
(2)
Pedigree
(2)
5' Untranslated Regions
(1)
5′utr
(1)
Aged, 80 And Over
(1)
Ataxia - Complications
(1)
Ataxia - Physiopathology
(1)
Author
(1)
Base Sequence
(1)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Alzheimer's & Dementia
(4)
Journal Of The Peripheral Nervous System
(3)
Neurobiology Of Aging
(3)
Brain
(1)
Embo Molecular Medicine
(1)
Expert Review Of Molecular Diagnostics
(1)
Nature Biotechnology
(1)
Nature Genetics
(1)
Neurology
(1)

4 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Corrigendum to: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823–10 G>T at the intron 9/exon 10 of the MAPT gene

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 1221.e1–1221.e6]

Author Correction: Scalable and robust SARS-CoV-2 testing in an academic center

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology invitro and invivo

Clinicopathological study of frontotemporal dementia with homozygous mutation of the C9ORF72 gene

P2–219: Clinicopathological study of frontotemporal dementia with homozygous mutation of the C9ORF72 gene

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

Functional genomics in the stroke-prone spontaneously hypertensive rat: genome wide and candidate gene analysis

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia

Severe cognitive impairment in a patient with CMT2A

MSA-C or SCA 17? A clinicopathological case update

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Plasma phospho‐tau in familial Alzheimer’s disease

Plasma phospho‐tau in familial Alzheimer’s disease: Biomarkers (non‐neuroimaging) / plasma/serum/urine biomarkers

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

A novel mutation in the nerve-specific 5-2UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Aktive Filter

Suchergebnisse filtern